Canonical Allele Identifier: CA404334415

Gene: CACNA1A

Linked Data

• COSMIC: COSM2817404 ; COSM2817405 ; COSM2817406 ; COSM2817407
• MyVariant Identifiers: chr19:g.13342564T>C (hg19) ; chr19:g.13231750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231750T>C , CM000681.2:g.13231750T>C	GRCh38
NC_000019.9:g.13342564T>C , CM000681.1:g.13342564T>C	GRCh37
NC_000019.8:g.13203564T>C	NCBI36
NG_011569.1:g.279711A>G , LRG_7:g.279711A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5360A>G MANE Select	ENSP00000353362.5:p.Tyr1787Cys
ENST00000573710.7:c.5366A>G	ENSP00000460092.3:p.Tyr1789Cys
ENST00000573891.6:c.779A>G
ENST00000574822.6:n.584A>G
ENST00000585802.6:c.521A>G	ENSP00000465598.2:p.Tyr174Cys
ENST00000635727.1:c.5363A>G	ENSP00000490001.1:p.Tyr1788Cys
ENST00000635742.1:n.1349A>G
ENST00000635895.1:c.5363A>G	ENSP00000490323.1:p.Tyr1788Cys
ENST00000636012.1:c.5363A>G	ENSP00000490223.1:p.Tyr1788Cys
ENST00000636389.1:c.5363A>G	ENSP00000489992.1:p.Tyr1788Cys
ENST00000636473.1:c.455A>G	ENSP00000490173.1:p.Tyr152Cys
ENST00000636549.1:c.5369A>G	ENSP00000490578.1:p.Tyr1790Cys
ENST00000637276.1:c.5363A>G	ENSP00000489777.1:p.Tyr1788Cys
ENST00000637432.1:c.5378A>G	ENSP00000490617.1:p.Tyr1793Cys
ENST00000637736.1:c.5222A>G	ENSP00000489861.1:p.Tyr1741Cys
ENST00000637769.1:c.5363A>G	ENSP00000489778.1:p.Tyr1788Cys
ENST00000637777.1:c.554A>G
ENST00000637809.1:n.753A>G
ENST00000637819.1:c.764A>G	ENSP00000490686.1:p.Tyr255Cys
ENST00000637832.1:n.354A>G
ENST00000637927.1:c.5366A>G	ENSP00000489715.1:p.Tyr1789Cys
ENST00000638009.2:c.5363A>G	ENSP00000489913.1:p.Tyr1788Cys
ENST00000638029.1:c.5378A>G	ENSP00000489829.1:p.Tyr1793Cys
ENST00000664864.1:c.5564A>G	ENSP00000499449.1:p.Tyr1855Cys
ENST00000360228.9:c.5360A>G	ENSP00000353362.5:p.Tyr1787Cys
ENST00000573710.6:c.5363A>G	ENSP00000460092.2:p.Tyr1788Cys
ENST00000573891.5:c.779A>G
ENST00000574822.5:n.584A>G
ENST00000585802.5:c.1418A>G	ENSP00000465598.1:p.Tyr473Cys
ENST00000587525.5:c.821A>G	ENSP00000467729.1:p.Tyr274Cys
ENST00000614285.4:c.5378A>G	ENSP00000479983.1:p.Tyr1793Cys
NM_000068.3:c.5378A>G	NP_000059.3:p.Tyr1793Cys
NM_001127221.1:c.5363A>G , LRG_7t1:c.5363A>G	NP_001120693.1:p.Tyr1788Cys
NM_001127222.1:c.5360A>G	NP_001120694.1:p.Tyr1787Cys
NM_001174080.1:c.5369A>G	NP_001167551.1:p.Tyr1790Cys
NM_023035.2:c.5378A>G	NP_075461.2:p.Tyr1793Cys
NM_000068.4:c.5378A>G	NP_000059.3:p.Tyr1793Cys
NM_001127222.2:c.5360A>G MANE Select	NP_001120694.1:p.Tyr1787Cys
NM_001174080.2:c.5369A>G	NP_001167551.1:p.Tyr1790Cys
NM_023035.3:c.5378A>G	NP_075461.2:p.Tyr1793Cys
NM_001127221.2:c.5363A>G	NP_001120693.1:p.Tyr1788Cys